On the Complexity of Visual Judgement of Kinship

por Brodo, Linda, Grosso, Enrico
Publicado 2019

Regulation of aromatase expression in breast cancer treated with anastrozole neoadjuvant therapy

por GHIMENTI, CHIARA, MELLO-GRAND, MAURIZIA, GROSSO, ENRICO, SCATOLINI, MARIA, REGOLO, LEA, ZAMBELLI, ALBERTO, CHIORINO, GIOVANNA
Publicado 2013

A New Case of 13q12.2q13.1 Microdeletion Syndrome Contributes to Phenotype Delineation

por Mandrile, Giorgia, Di Gregorio, Eleonora, Calcia, Alessandro, Brussino, Alessandro, Grosso, Enrico, Savin, Elisa, Giachino, Daniela Francesca, Brusco, Alfredo
Publicado 2014

Assessment of a High Sensitivity Method for Identification of IDH1 R132x Mutations in Tumors and Plasma of Intrahepatic Cholangiocarcinoma Patients

por Peraldo-Neia, Caterina, Scatolini, Maria, Grosso, Enrico, Lombardi, Pasquale, Filippi, Roberto, Raggi, Chiara, Marchiò, Caterina, Cavalloni, Giuliana, Aglietta, Massimo, Leone, Francesco
Publicado 2019

Congenital Sensorineural Hearing Loss and Inborn Pigmentary Disorders: First Report of Multilocus Syndrome in Piebaldism

por Gironi, Laura Cristina, Colombo, Enrico, Brusco, Alfredo, Grosso, Enrico, Naretto, Valeria Giorgia, Guala, Andrea, Di Gregorio, Eleonora, Zonta, Andrea, Zottarelli, Francesca, Pasini, Barbara, Savoia, Paola
Publicado 2019

THU616 Analysis Of Germline Mutations In Patients With Sporadic Adrenocortical Carcinoma

por Terzolo, Massimo, Grisanti, Salvatore, Scatolini, Maria, Tomaiuolo, Pasquale, Grosso, Enrico, Basile, Vittoria, Cosentini, Deborah, Puglisi, Soraya, Laganà, Marta, Perotti, Paola, Saba, Laura, Rossini, Elisa, Sigala, Sandra, Volante, Marco, Berruti, Alfredo
Publicado 2023

Design and validation of a pericentromeric BAC clone set aimed at improving diagnosis and phenotype prediction of supernumerary marker chromosomes

por Castronovo, Chiara, Valtorta, Emanuele, Crippa, Milena, Tedoldi, Sara, Romitti, Lorenza, Amione, Maria Cristina, Guerneri, Silvana, Rusconi, Daniela, Ballarati, Lucia, Milani, Donatella, Grosso, Enrico, Cavalli, Pietro, Giardino, Daniela, Bonati, Maria Teresa, Larizza, Lidia, Finelli, Palma
Publicado 2013

Diagnosis of maternal Hodgkin lymphoma following abnormal findings at noninvasive prenatal screening test (NIPT): Report of two cases

por Castellino, Alessia, Elba, Simona, Sorasio, Roberto, Castellino, Claudia, Bonferroni, Margherita, Grasso, Mariella, Grosso, Enrico, Giacchello, Rosalba, Signorile, Anna Franca, Celeghini, Ivana, Mattei, Daniele, Mordini, Nicola, Foglietta, Myriam, Masturzo, Bianca, Priotto, Roberto, Zonta, Andrea, Rapezzi, Davide, Massaia, Massimo
Publicado 2021

8p23.2-pter Microdeletions: Seven New Cases Narrowing the Candidate Region and Review of the Literature

por Catusi, Ilaria, Garzo, Maria, Capra, Anna Paola, Briuglia, Silvana, Baldo, Chiara, Canevini, Maria Paola, Cantone, Rachele, Elia, Flaviana, Forzano, Francesca, Galesi, Ornella, Grosso, Enrico, Malacarne, Michela, Peron, Angela, Romano, Corrado, Saccani, Monica, Larizza, Lidia, Recalcati, Maria Paola
Publicado 2021

Recurrent NF1 gene variants and their genotype/phenotype correlations in patients with Neurofibromatosis type I

por Riva, Matteo, Martorana, Davide, Uliana, Vera, Caleffi, Edoardo, Boschi, Elena, Garavelli, Livia, Ponti, Giovanni, Sangiorgi, Luca, Graziano, Claudio, Bigoni, Stefania, Rocchetti, Luca Maria, Madeo, Simona, Soli, Fiorenza, Grosso, Enrico, Carli, Diana, Goldoni, Matteo, Pisani, Francesco, Percesepe, Antonio
Publicado 2021

Genomic Studies in a Large Cohort of Hearing Impaired Italian Patients Revealed Several New Alleles, a Rare Case of Uniparental Disomy (UPD) and the Importance to Search for Copy N...

por Morgan, Anna, Lenarduzzi, Stefania, Cappellani, Stefania, Pecile, Vanna, Morgutti, Marcello, Orzan, Eva, Ghiselli, Sara, Ambrosetti, Umberto, Brumat, Marco, Gajendrarao, Poornima, La Bianca, Martina, Faletra, Flavio, Grosso, Enrico, Sirchia, Fabio, Sensi, Alberto, Graziano, Claudio, Seri, Marco, Gasparini, Paolo, Girotto, Giorgia
Publicado 2018

Gene Panel Analysis in a Large Cohort of Patients With Autosomal Dominant Polycystic Kidney Disease Allows the Identification of 80 Potentially Causative Novel Variants and the Cha...

por Mantovani, Vilma, Bin, Sofia, Graziano, Claudio, Capelli, Irene, Minardi, Raffaella, Aiello, Valeria, Ambrosini, Enrico, Cristalli, Carlotta Pia, Mattiaccio, Alessandro, Pariali, Milena, De Fanti, Sara, Faletra, Flavio, Grosso, Enrico, Cantone, Rachele, Mancini, Elena, Mencarelli, Francesca, Pasini, Andrea, Wischmeijer, Anita, Sciascia, Nicola, Seri, Marco, La Manna, Gaetano
Publicado 2020

Large cryptic genomic rearrangements with apparently normal karyotypes detected by array-CGH

por Di Gregorio, Eleonora, Savin, Elisa, Biamino, Elisa, Belligni, Elga Fabia, Naretto, Valeria Giorgia, D’Alessandro, Gaetana, Gai, Giorgia, Fiocchi, Franco, Calcia, Alessandro, Mancini, Cecilia, Giorgio, Elisa, Cavalieri, Simona, Talarico, Flavia, Pappi, Patrizia, Gandione, Marina, Grosso, Monica, Asnaghi, Valentina, Restagno, Gabriella, Mandrile, Giorgia, Botta, Giovanni, Silengo, Margherita Cirillo, Grosso, Enrico, Ferrero, Giovanni Battista, Brusco, Alfredo
Publicado 2014

Clinical and molecular description of the first Italian cohort of 33 subjects with hypophosphatasia

por Cinque, Luigia, Pugliese, Flavia, Salcuni, Antonio Stefano, Trombetta, Domenico, Battista, Claudia, Biagini, Tommaso, Augello, Bartolomeo, Nardella, Grazia, Conti, Francesco, Corbetta, Sabrina, Fischetto, Rita, Foiadelli, Thomas, Gaudio, Agostino, Giannini, Cosimo, Grosso, Enrico, Guabello, Gregorio, Massuras, Stefania, Palermo, Andrea, Politano, Luisa, Pigliaru, Francesca, Ruggeri, Rosaria Maddalena, Scarano, Emanuela, Vicchio, Piera, Cannavò, Salvatore, Celli, Mauro, Petrizzelli, Francesco, Mastroianno, Mario, Castori, Marco, Scillitani, Alfredo, Guarnieri, Vito
Publicado 2023

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

por Salpietro, Vincenzo, Dixon, Christine L., Guo, Hui, Bello, Oscar D., Vandrovcova, Jana, Efthymiou, Stephanie, Maroofian, Reza, Heimer, Gali, Burglen, Lydie, Valence, Stephanie, Torti, Erin, Hacke, Moritz, Rankin, Julia, Tariq, Huma, Colin, Estelle, Procaccio, Vincent, Striano, Pasquale, Mankad, Kshitij, Lieb, Andreas, Chen, Sharon, Pisani, Laura, Bettencourt, Conceicao, Männikkö, Roope, Manole, Andreea, Brusco, Alfredo, Grosso, Enrico, Ferrero, Giovanni Battista, Armstrong-Moron, Judith, Gueden, Sophie, Bar-Yosef, Omer, Tzadok, Michal, Monaghan, Kristin G., Santiago-Sim, Teresa, Person, Richard E., Cho, Megan T., Willaert, Rebecca, Yoo, Yongjin, Chae, Jong-Hee, Quan, Yingting, Wu, Huidan, Wang, Tianyun, Bernier, Raphael A., Xia, Kun, Blesson, Alyssa, Jain, Mahim, Motazacker, Mohammad M., Jaeger, Bregje, Schneider, Amy L., Boysen, Katja, Muir, Alison M., Myers, Candace T., Gavrilova, Ralitza H., Gunderson, Lauren, Schultz-Rogers, Laura, Klee, Eric W., Dyment, David, Osmond, Matthew, Parellada, Mara, Llorente, Cloe, Gonzalez-Peñas, Javier, Carracedo, Angel, Van Haeringen, Arie, Ruivenkamp, Claudia, Nava, Caroline, Heron, Delphine, Nardello, Rosaria, Iacomino, Michele, Minetti, Carlo, Skabar, Aldo, Fabretto, Antonella, Raspall-Chaure, Miquel, Chez, Michael, Tsai, Anne, Fassi, Emily, Shinawi, Marwan, Constantino, John N., De Zorzi, Rita, Fortuna, Sara, Kok, Fernando, Keren, Boris, Bonneau, Dominique, Choi, Murim, Benzeev, Bruria, Zara, Federico, Mefford, Heather C., Scheffer, Ingrid E., Clayton-Smith, Jill, Macaya, Alfons, Rothman, James E., Eichler, Evan E., Kullmann, Dimitri M., Houlden, Henry
Publicado 2019